Center for Applied Human Genetics

Glostrup, Denmark

Center for Applied Human Genetics

Glostrup, Denmark
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Moller L.B.,Center for Applied Human Genetics | Rea G.,Belfast City Hospital | Yasmeen S.,Center for Applied Human Genetics | Skjorringe T.,Center for Applied Human Genetics | And 3 more authors.
Molecular Genetics and Metabolism | Year: 2013

We present a case of classical Menkes disease (MD) due to a novel "silent" substitution in the ATP7A gene; c.2781G>A (p.K927K). The affected nucleotide is the last nucleotide in exon 13, and affects mRNA splicing. Transcripts missing exon 13; and transcripts missing exons 11, 12 and 13 in addition to a very small amount of normal spliced ATP7A transcripts were expressed. This is the first report of a synonymous ATP7A substitution being responsible for MD. © 2013 Elsevier Inc.


PubMed | Center for Applied Human Genetics
Type: Journal Article | Journal: Molecular genetics and metabolism | Year: 2013

We present a case of classical Menkes disease (MD) due to a novel silent substitution in the ATP7A gene; c.2781G>A (p.K927K). The affected nucleotide is the last nucleotide in exon 13, and affects mRNA splicing. Transcripts missing exon 13; and transcripts missing exons 11, 12 and 13 in addition to a very small amount of normal spliced ATP7A transcripts were expressed. This is the first report of a synonymous ATP7A substitution being responsible for MD.

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